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Research Interests

Papers共 89 篇Author StatisticsCo-AuthorSimilar Experts

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Combined Genomics and Proteomics Unveils Elusive Variants and Vast Aetiologic Heterogeneity in Dystonia
Michael Zech,Ivana Dzinovic,Matej Skorvanek,Philip Harrer,Jan Necpal,Robert Kopajtich,Volker Kittke,Erik Tilch, Chen Zhao,Eugenia Tsoma, Ugo Sorrentino,Elisabetta Indelicato, Antonia Stehr, Alice Saparov,Lucia Abela,Miriam Adamovicova,Alexandra Afenjar,Birgit Assmann,Janette Baloghova, Matthias Baumann,Riccardo Berutti, Zuzana Brezna,Melanie Brugger,Theresa Brunet,Benjamin Cogne,Isabel Colangelo,Erin Conboy, Felix Distelmaier,Matthias Eckenweiler,Barbara Garavaglia,Arie Geerlof,Elisabeth Graf,Annette Hackenberg, Denisa Harvanova,Bernhard Haslinger,Petra Havrankova,Georg F Hoffmann,Wibke G Janzarik,Boris Keren,Miriam Kolnikova,Konstantinos Kolokotronis, Zuzana Kosutzka,Anne Koy,Martin Krenn,Magdalena Krygier, Katarina Kusikova, Oliver Maier,Thomas Meitinger,Christian Mertes,Ivan Milenkovic,Edoardo Monfrini, Andre Santos Dias Mourao,Thomas Musacchio,Mathilde Nizon,Miriam Ostrozovicova, Martin Pavlov,Iva Prihodova,Irena Rektorova,Luigi M Romito, Barbora Rybanska,Ariane Sadr-Nabavi, Susanne Schwenger,Ali Shoeibi,Alexandra Sitzberger,Dmitrii Smirnov,Jana Svantnerova, Raushana Tautanova,Sandra P Toelle,Olga Ulmanova,Francesco Vetrini,Katharina Vill, Matias Wagner,David Weise,Giovanna Zorzi,Alessio Di Fonzo,Konrad Oexle, Steffen Berweck,Volker Mall,Sylvia Boesch,Barbara Schormair,Holger Prokisch,Robert Jech,Juliane Winkelmann
Brain a journal of neurology (2025)
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P626: Enhancing Ultra-Rare Disease Diagnoses Through Multi-Omics Integration and Multi-Site Collaboration in the Indiana University Undiagnosed Rare Disease Clinic (URDC) Cohort
Khurram Liaqat,Kayla Treat, Lili Mantcheva, Marco Abreu, Tae-Hwi Schwantes-An, Kevin Booth,Marwan Tayeh, Summan Thahiem, Benjamin Helm, Brett Graham, Patrick Gillespie, Stephanie Ware,Erin Conboy,Francesco Vetrini
Genetics in Medicine Open (2025): 102474
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Author Statistics

#Papers: 89

#Citation: 7838

H-Index: 24

G-Index: 50

Sociability: 7

Diversity: 3

Activity: 8

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